RNU2-2
Chr 11ADRNA, U2 small nuclear 2
Also known as: DEE119, RNU2-2P, RNU2B, U2
This gene encodes the U2 small nuclear RNA, which is an essential component of the spliceosome that removes introns from pre-mRNA transcripts during RNA processing. Mutations cause developmental and epileptic encephalopathy 119, characterized by early-onset seizures and developmental delays affecting the central nervous system. The condition follows an autosomal dominant inheritance pattern.
Strong evidence — appropriate for clinical testing
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU2-2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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Links to major genomics databases and tools